Gene Therapy May Hold Promise for Blistering Skin Disease

In the early stage clinical trial, researchers from the Stanford University School of Medicine tested the therapy on four adults with recessive dystrophic epidermolysis bullosa.

People with this skin condition aren't able to produce a protein that binds the upper and lower levels of skin together. At the slightest friction, these layers slide and create blisters. In the worst cases, death occurs in infancy, the researchers said.

In the current research, grafts of the patients' own genetically corrected skin were applied to open wounds caused by the disease. The grafts improved wound healing and seemed to be well-tolerated, researchers reported.

"Our phase 1 trial shows the treatment appears safe, and we were fortunate to see some good clinical outcomes," said co-senior author Dr. Jean Tang, an associate professor of dermatology.

"In some cases, wounds that had not healed for five years were successfully healed with the gene therapy. This is a huge improvement in the quality of life for these people," Tang said in a university news release.

The next step is to assess the therapy in patients aged 13 and older. Being able to treat children may prevent the development of serious chronic wounds and scars, the researchers said.

But additional trials will be needed before the procedure becomes an accepted practice.

The study was published Nov. 1 in the Journal of the American Medical Association.